Canonical Allele Identifier: CA256681
Gene: RHO HGNC NCBI

Linked Data

ClinVar Variation Id: 13035
ClinVar RCV Id: RCV000013910 RCV001073635 RCV001234924
dbSNP Id: rs104893787
MyVariant Identifiers: chr3:g.129247905G>A (hg19) chr3:g.129529062G>A (hg38)
PubMed: PMID:8088850
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.129529062G>A , CM000665.2:g.129529062G>A GRCh38
NC_000003.11:g.129247905G>A , CM000665.1:g.129247905G>A GRCh37
NC_000003.10:g.130730595G>A NCBI36
NG_009115.1:g.5424G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000296271.4:c.329G>A MANE Select ENSP00000296271.3:p.Cys110Tyr
ENST00000296271.3:c.329G>A ENSP00000296271.3:p.Cys110Tyr
NM_000539.3:c.329G>A MANE Select NP_000530.1:p.Cys110Tyr
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